Affinage

SMN1

Survival motor neuron protein · UniProt Q16637

Length
294 aa
Mass
31.8 kDa
Annotated
2026-06-10
100 papers in source corpus 14 papers cited in narrative 14 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SMN1 encodes the SMN protein, an oligomeric scaffold whose core, disease-relevant activity is the assembly of spliceosomal snRNPs: SMN binds Sm proteins through its Tudor domain, and SMA-causing missense mutations in this domain (p.G95R, p.A111G) reduce Sm-protein binding (PMID:15580564). This snRNP-assembly activity is the critical function for disease rescue—the A111G allele, which retains assembly activity, rescues SMA mice in proportion to spinal-cord snRNP assembly and snRNA levels, and full-length and mutant SMN undergo intragenic complementation within heteromeric oligomers (PMID:19329542). Downstream, SMN deficiency impairs minor (U12-dependent) splicing; restoring minor snRNAs corrects splicing of the U12 intron-containing gene Stasimon and rescues proprioceptive sensory synapses on motor neurons, linking splicing dysfunction directly to motor-circuit pathology (PMID:32516136). SMN is required cell-autonomously in motor neurons during a defined early postnatal window for motor axon radial growth, myelination, and NMJ maturation; elevated SMN is needed early and is dispensable after this window (PMID:21672919, PMID:33504650). SMN deficiency also disrupts the actin cytoskeleton via increased RhoA activation, where ROCK inhibition improves survival and NMJ maturation independently of SMN levels (PMID:20097679), and causes lysosomal and mitochondrial dysfunction with impaired mitophagy and respiratory-chain defects in skeletal muscle (PMID:36849544). Beyond snRNP biogenesis, SMN associates with FUS via U1 snRNP and direct contacts, with FUS required for nuclear Gem formation (PMID:23022481), and inhibits TRAF6/IKK-driven NF-κB signaling in microglia (PMID:28214532). Non-cell-autonomous support is mediated in part by astrocyte-secreted MCP1, whose reduction impairs motor neuron neurite outgrowth (PMID:28450545). The SMN1/SMN2 distinction does not arise from promoter differences, which are nearly equivalent (PMID:10366716).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1999 Medium

    Established that the SMN1-versus-SMN2 functional difference is not transcriptional, redirecting the field toward coding/splicing-level explanations for why only SMN1 loss causes SMA.

    Evidence Luciferase reporter assays with SMNT/SMNC 5'-flanking fragments in a motor neuron cell line

    PMID:10366716

    Open questions at the time
    • Did not identify the actual basis of the SMN1/SMN2 functional difference
    • Reporter activity in a cell line may not reflect endogenous regulation
  2. 2005 Medium

    Mapped the essential Sm-protein binding site to the SMN Tudor domain by showing patient-derived Tudor mutations disrupt Sm binding while exon 2a mutations spare SIP1 interaction, linking SMA mutations to a specific molecular interface.

    Evidence In vitro pull-down assays with recombinant SMN carrying patient missense mutations

    PMID:15580564

    Open questions at the time
    • In vitro binding only, not in cellular or animal context
    • Single lab/single study
  3. 2009 High

    Demonstrated that snRNP assembly activity is the critical SMN function for SMA rescue, quantitatively tying disease correction to assembly activity and snRNA levels in vivo.

    Evidence Genetic rescue of SMA mice with SMN(A111G), snRNP assembly assays, snRNA quantification, and intragenic complementation analysis

    PMID:19329542

    Open questions at the time
    • Does not exclude additional tissue-specific SMN functions contributing to disease
    • Mechanism connecting general snRNP defects to selective motor neuron vulnerability unresolved
  4. 2010 Medium

    Connected SMN loss to cytoskeletal dysregulation via RhoA hyperactivation and showed pharmacological ROCK inhibition improves outcome independently of SMN, identifying a druggable downstream node.

    Evidence RhoA pull-down activity assay and Y-27632 ROCK inhibition in SMA mice with NMJ and muscle fiber analysis

    PMID:20097679

    Open questions at the time
    • Molecular link between SMN and RhoA activation not defined
    • Single lab
  5. 2011 High

    Defined a temporal therapeutic window by showing elevated SMN is required during early postnatal development but dispensable thereafter, reshaping the rationale for timing of SMA therapy.

    Evidence Inducible SMN transgene in SMA mice with NMJ electrophysiology, morphology, and behavioral readouts at staggered induction/removal timepoints

    PMID:21672919

    Open questions at the time
    • Does not define which SMN molecular function the early window serves
    • Window boundaries may differ across species
  6. 2012 Medium

    Linked the SMN complex to ALS biology by showing SMN associates with FUS via U1 snRNP and direct binding, with FUS and ALS-mutant FUS controlling nuclear Gem formation.

    Evidence Reciprocal Co-IP, in vitro direct binding, and Gem counting with FUS knockdown and R495X overexpression in HeLa cells

    PMID:23022481

    Open questions at the time
    • Functional consequence of SMN-FUS interaction for motor neurons not established
    • Performed in HeLa rather than neurons
  7. 2017 Medium

    Identified a non-canonical SMN role as a negative regulator of TRAF6/IKK/NF-κB signaling in microglia, suggesting an inflammatory contribution to SMA.

    Evidence Co-IP, in vitro ubiquitin ligase and kinase assays, and RNAi cytokine/NO readouts in BV2 microglia with patient fibroblast validation

    PMID:28214532

    Open questions at the time
    • In vivo relevance to SMA pathogenesis not demonstrated
    • Single lab
  8. 2020 High

    Established that minor (U12) splicing defects downstream of SMN loss causally drive proprioceptive synapse loss, by rescuing Stasimon splicing and sensory synapses with minor snRNA delivery.

    Evidence Viral minor snRNA gene delivery in SMA mice with RT-PCR splicing assays, proprioceptive synapse IHC, and survival analysis

    PMID:32516136

    Open questions at the time
    • Full set of pathogenic U12-dependent targets not enumerated
    • Single lab
  9. 2020 Medium

    Defined a non-cell-autonomous mechanism whereby SMN-deficient astrocytes fail to secrete MCP1, compromising motor neuron support that MCP1 add-back restores.

    Evidence SMA astrocyte-motor neuron co-culture, MCP1 ELISA, and MCP1 add-back rescue of neurite length

    PMID:28450545

    Open questions at the time
    • In vivo contribution of astrocyte MCP1 to SMA not shown
    • Mechanism linking SMN to MCP1 secretion unknown
  10. 2021 High

    Demonstrated SMN is required cell-autonomously in motor neurons for axon radial growth and myelination, and that timing of SMN2 splice-modifier correction (in utero) is critical for axonal maturation.

    Evidence Cell-type-specific genetic SMN rescue and embryonic vs postnatal splice-modifier treatment in SMA mice with histology, electrophysiology, and NfL biomarker

    PMID:33504650

    Open questions at the time
    • Molecular pathway from SMN to radial growth/myelination not defined
    • Translatability of in utero timing to humans unclear
  11. 2023 High

    Showed muscle-intrinsic SMN loss causes mitochondrial dysfunction through impaired lysosomal mitophagy, extending SMA pathology to an organelle-quality-control defect.

    Evidence Muscle-specific Smn1 knockout mice with single-myofiber RNA-seq, Seahorse respirometry, complex I/IV assays, ROS measurement, and stem cell transplantation rescue

    PMID:36849544

    Open questions at the time
    • Mechanism linking SMN to lysosomal/mitophagy function unresolved
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a deficiency in a ubiquitous snRNP-assembly scaffold produces selective, time-restricted motor neuron and neuromuscular pathology, and how its many reported non-canonical activities are mechanistically integrated, remains unresolved.
  • No unified mechanism connecting snRNP/splicing defects to tissue-selective vulnerability
  • Causal hierarchy among RhoA, mitochondrial, NF-κB, and FUS-related effects undefined
  • Phosphorylation regulation of SMN localization/stability not experimentally dissected in this corpus

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003723 RNA binding 2 GO:0060090 molecular adaptor activity 2 GO:0098772 molecular function regulator activity 1
Localization
GO:0005634 nucleus 1 GO:0005829 cytosol 1
Pathway
R-HSA-8953854 Metabolism of RNA 2 R-HSA-74160 Gene expression (Transcription) 1
Partners
CHUKFUSIKBKBIKBKGSMN2TRAF6
Complex memberships
SMN complexsnRNP

Evidence

Reading pass · 14 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2005 SMA-causing missense mutations p.G95R and p.A111G in the Tudor domain of SMN reduce SMN binding to Sm proteins in vitro, confirming the Tudor domain as the essential binding site for Sm proteins. Mutations in exon 2a (p.D30N, p.D44V), a region important for SIP1 binding, do not disrupt SMN–SIP1 interaction. In vitro protein interaction studies (pull-down assays) with recombinant proteins carrying patient-derived missense mutations Human mutation Medium 15580564
2009 SMN function in snRNP assembly is the critical activity required to rescue SMA in mice. The missense allele SMN(A111G), which retains snRNP assembly activity, rescues SMA mice lacking endogenous Smn, and the degree of rescue directly correlates with snRNP assembly activity and snRNA levels in the spinal cord. Intragenic complementation between SMN(A111G) and full-length SMN from SMN2 in heteromeric oligomers substantially restores snRNP assembly activity. Genetic rescue in SMA mouse model using transgenic SMN(A111G) allele; biochemical snRNP assembly assays and snRNA quantification in spinal cord; complementation analysis with SMN(A2G) allele Human molecular genetics High 19329542
2012 SMN (SMN1 protein) associates with the RNA-binding protein FUS, mediated both by U1 snRNP and by direct protein–protein interactions between FUS and SMN. Functionally, FUS is required for nuclear Gem formation in HeLa cells, and expression of an ALS-causing FUS mutant (R495X) also causes Gem loss, linking SMN complex function to ALS pathology. Co-immunoprecipitation (Co-IP), in vitro direct binding assays, Gem counting by immunofluorescence in HeLa cells with FUS knockdown and mutant FUS overexpression Cell reports Medium 23022481
2017 SMN1 protein (SMN) physically interacts with TRAF6 and with each component of the IKK complex (IKK-α, IKK-β, IKK-γ) in BV2 microglia cells, inhibits TRAF6 E3 ubiquitin ligase activity and IKK kinase activity, and thereby negatively regulates IL-1β-induced NF-κB signaling. Knockdown of endogenous SMN by RNAi enhances IKK activation and production of TNF-α and nitric oxide. Co-immunoprecipitation in BV2 cells; in vitro ubiquitin ligase and kinase activity assays; RNAi knockdown with cytokine/NO readouts; validation in SMA patient fibroblasts Biochimica et biophysica acta. Molecular cell research Medium 28214532
2017 The SMN protein directly binds to profilins, which are major regulators of actin dynamics, providing a molecular basis for actin cytoskeletal dysregulation in SMA motor neurons. Binding interaction reported in review citing primary experimental literature on SMN–profilin direct binding The Neuroscientist Low 28459188
2010 SMN deficiency in SMA mice leads to increased RhoA activation in the spinal cord, and pharmacological inhibition of the downstream RhoA effector ROCK with Y-27632 dramatically improves survival and neuromuscular junction maturation independently of SMN expression levels, linking disrupted actin cytoskeletal dynamics to SMA pathogenesis. RhoA activity assay (pull-down) in SMA mouse spinal cord; pharmacological ROCK inhibition with Y-27632 in intermediate SMA mice; NMJ morphology and muscle fiber size analysis Human molecular genetics Medium 20097679
2020 SMN-deficient astrocytes show decreased secretion of MCP1, and restoration of MCP1 stimulates neurite outgrowth from cultured motor neurons, identifying reduced MCP1 secretion as a mechanism by which astrocyte SMN deficiency compromises motor neuron support. Primary astrocyte-motor neuron co-culture from SMA mice; ELISA for MCP1; MCP1 add-back rescue of neurite length The Journal of neuroscience Medium 28450545
2011 High SMN expression is required during an early postnatal window; induction of SMN in the early postnatal period in SMA mice rescues motor function and normalizes NMJ electrophysiology, whereas removal of SMN induction after 28 days does not produce overt motor phenotype, establishing a defined temporal requirement for elevated SMN levels. Inducible SMN transgene in SMA mice; NMJ electrophysiology and morphology; motor behavioral assessment at multiple time points after SMN induction/removal Human molecular genetics High 21672919
2021 Genetic restoration of SMN expression specifically in motor neurons (but not in Schwann cells or muscle) improves motor axon radial growth and myelination in SMA mice, establishing that SMN is required cell-autonomously in motor neurons for axon development and maintenance. In utero SMN2 splice modifier treatment (but not postnatal treatment) is required to restore axonal maturation and prevent neonatal degeneration. Cell-type-specific genetic SMN rescue in SMA mice; pharmacological SMN2 splice modifier treatment at embryonic vs. postnatal stages; histological and electrophysiological analysis of motor axons; neurofilament light chain blood biomarker Science translational medicine High 33504650
2023 Loss of SMN1 in mouse skeletal muscle leads to accumulation of dysfunctional mitochondria with impaired complex I and IV activity, reduced respiration, and excess ROS production due to lysosomal dysfunction that impairs mitophagy. Transplantation of amniotic fluid stem cells that rescue the myopathic phenotype also restores mitochondrial morphology and expression of mitochondrial genes. Muscle-specific Smn1 knockout mice; single-myofiber RNA sequencing; mitochondrial respiration (Seahorse); complex I/IV enzymatic assays; ROS measurement; stem cell transplantation rescue Cell death & disease High 36849544
2020 Virus-mediated delivery of minor snRNA genes specifically improves select U12 splicing defects induced by SMN deficiency in mammalian cells and in the spinal cord of SMA mice, rescues aberrant splicing of the U12 intron-containing gene Stasimon, and rescues loss of proprioceptive sensory synapses on motor neurons, establishing that U12 splicing dysfunction downstream of SMN deficiency directly contributes to synaptic deafferentation and motor circuit pathology. Viral snRNA gene delivery in SMA mouse models; RT-PCR splicing assays for U12 intron-containing genes; proprioceptive synapse immunohistochemistry; behavioral and survival analysis JCI insight High 32516136
1999 The SMN1 and SMN2 promoters are nearly equivalent in sequence and drive only a 2-fold difference in reporter activity in a motor neuron cell line; a ~200 bp element within the 750 bp 5'-flanking fragment is sufficient for high expression. This rules out major promoter differences as the explanation for why only SMN1 (SMNT) mutations cause SMA. Reporter gene (luciferase) assays with 5'-flanking fragments from SMNT and SMNC in motor neuron cell line; sequence comparison of 3.4 kb upstream regions Biochimica et biophysica acta Medium 10366716
2022 Multiple phosphorylation sites on SMN protein regulate its localization, stability, and interactions; phosphorylation is identified as a key post-translational modification affecting intracellular distribution of SMN, with some SMA patient mutations overlapping putative phosphorylation sites. Review/mapping of published PTM data; no new primary experiment reported in this abstract Cellular and molecular life sciences Low 36006469
2017 SMN2 pre-mRNA splicing is regulated by a C→T substitution in exon 7 that converts an exonic splicing enhancer (ESE) to a silencer (ESS), causing frequent exon 7 skipping and production of a truncated, unstable protein; antisense oligonucleotide targeting the intron 7 intronic splicing silencer (ISS-N1) restores exon 7 inclusion and increases functional SMN protein. Mechanistic description of splicing regulation (cited in Bench-to-Bedside commentary referencing primary experimental work on ESE/ESS and antisense oligonucleotide treatment) Cell Low 28666123

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2000 An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Human mutation 490 10679938
1997 Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. American journal of human genetics 452 9199562
2018 Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA). Journal of medicinal chemistry 408 30044619
2012 FUS-SMN protein interactions link the motor neuron diseases ALS and SMA. Cell reports 213 23022481
2017 The clinical landscape for SMA in a new therapeutic era. Gene therapy 143 28644430
2010 Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Human molecular genetics 140 20097679
2002 Genetic testing and risk assessment for spinal muscular atrophy (SMA). Human genetics 139 12436240
2019 AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort. Journal of neuromuscular diseases 135 31381526
1996 An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Human molecular genetics 130 8922999
2021 Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science translational medicine 112 33504650
2016 Membrane protein extraction and purification using styrene-maleic acid (SMA) copolymer: effect of variations in polymer structure. The Biochemical journal 109 27694389
2011 Temporal requirement for high SMN expression in SMA mice. Human molecular genetics 102 21672919
2018 Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet journal of rare diseases 101 30029679
2004 New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. European journal of human genetics : EJHG 101 15470363
2003 Determination of SMN1 and SMN2 copy number using TaqMan technology. Human mutation 95 12815596
1998 Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. European journal of human genetics : EJHG 94 9801871
2005 Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Human mutation 93 15580564
1996 Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. Human molecular genetics 93 8852661
2023 Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma). Cureus 84 37065340
2009 A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Human molecular genetics 83 19329542
2017 The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration? The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry 76 28459188
2006 SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 71 16931506
1999 Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT). Biochimica et biophysica acta 70 10366716
2016 SMA-SH: Modified Styrene-Maleic Acid Copolymer for Functionalization of Lipid Nanodiscs. Biomacromolecules 68 26974006
2007 Population screening and cascade testing for carriers of SMA. European journal of human genetics : EJHG 66 17392705
2023 Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. American journal of human genetics 64 36669496
2004 Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Human mutation 64 15459957
2019 Retinal ischemia induces α-SMA-mediated capillary pericyte contraction coincident with perivascular glycogen depletion. Acta neuropathologica communications 62 31429795
2021 Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. International journal of molecular sciences 61 34360669
2019 Newborn screening for SMA in Southern Belgium. Neuromuscular disorders : NMD 58 31030938
1999 Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy. American journal of medical genetics 57 10405443
2020 Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease? Neurobiology of disease 53 32294521
2012 SMN1 gene duplications are associated with sporadic ALS. Neurology 53 22323753
1997 A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Human molecular genetics 50 9063743
2022 Biodistribution and Tolerability of AAV-PHP.B-CBh-SMN1 in Wistar Han Rats and Cynomolgus Macaques Reveal Different Toxicologic Profiles. Human gene therapy 49 34931542
2012 Mouse models of SMA: tools for disease characterization and therapeutic development. Human genetics 49 22543872
2005 SMA-1 spectrin has essential roles in epithelial cell sheet morphogenesis in C. elegans. Developmental biology 47 15890334
2019 Disruption of the MAMP-Induced MEKK1-MKK1/MKK2-MPK4 Pathway Activates the TNL Immune Receptor SMN1/RPS6. Plant & cell physiology 45 30590768
2022 Curing SMA: Are we there yet? Gene therapy 44 35614235
2020 MSC-released TGF-β regulate α-SMA expression of myofibroblast during wound healing. Journal of stem cells & regenerative medicine 44 33414583
2019 Current Treatment Options in Neurology-SMA Therapeutics. Current treatment options in neurology 44 31037425
2003 Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. European journal of human genetics : EJHG 42 12673282
2017 New insights into SMA pathogenesis: immune dysfunction and neuroinflammation. Annals of clinical and translational neurology 41 28695153
2002 The relationship between MI and SMA afferents and cerebellar and pallidal efferents in the macaque monkey. Somatosensory & motor research 41 12088388
2017 Therapeutic approaches for spinal muscular atrophy (SMA). Gene therapy 38 28561813
2013 SMA-MAP: a plasma protein panel for spinal muscular atrophy. PloS one 37 23565191
2000 SMA-3 smad has specific and critical functions in DBL-1/SMA-6 TGFbeta-related signaling. Developmental biology 37 10864461
2017 Histochemical and Immunohistochemical Study of α-SMA, Collagen, and PCNA in Epithelial Ovarian Neoplasm. Asian Pacific journal of cancer prevention : APJCP 36 28440973
1997 Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene. Neurology 35 9305352
2017 Splicing-Correcting Therapy for SMA. Cell 34 28666123
2002 Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Human genetics 34 11935338
2010 Splicing of the Survival Motor Neuron genes and implications for treatment of SMA. Frontiers in bioscience (Landmark edition) 33 20515750
2006 Healing and normal fibroblasts exhibit differential proliferation, collagen production, alpha-SMA expression, and contraction. Annals of biomedical engineering 33 16568347
2001 Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. Journal of the neurological sciences 33 11574104
2007 Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscular disorders : NMD 32 17475491
1998 Schistosoma mansoni Ca2+-ATPase SMA2 restores viability to yeast Ca2+-ATPase-deficient strains and functions in calcineurin-mediated Ca2+ tolerance. The Journal of biological chemistry 32 9774393
2022 Risdiplam: an investigational survival motor neuron 2 (SMN2) splicing modifier for spinal muscular atrophy (SMA). Expert opinion on investigational drugs 30 35316106
2017 Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion. The Journal of neuroscience : the official journal of the Society for Neuroscience 30 28450545
2022 Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen. Journal of neuromuscular diseases 29 34776417
2021 Membrane protein extraction and purification using partially-esterified SMA polymers. Biochimica et biophysica acta. Biomembranes 28 34480878
2004 Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. Journal of Korean medical science 28 15608400
2023 Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives. International journal of molecular sciences 27 36674643
2023 Emerging Gene Therapy Approaches in the Management of Spinal Muscular Atrophy (SMA): An Overview of Clinical Trials and Patent Landscape. International journal of molecular sciences 27 37762045
2021 Safety, Tolerability, and Effect of Nusinersen Treatment in Ambulatory Adults With 5q-SMA. Frontiers in neurology 27 34093395
2005 Differential requirement for phospholipase D/Spo14 and its novel interactor Sma1 for regulation of exocytotic vesicle fusion in yeast meiosis. The Journal of biological chemistry 27 16148007
2022 Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies. Children (Basel, Switzerland) 26 36010097
2018 New Directions for SMA Therapy. Journal of clinical medicine 26 30200278
2013 Sma- and Mad-related protein 7 (Smad7) is required for embryonic eye development in the mouse. The Journal of biological chemistry 24 23426374
1997 Analysis of protein binding to the Sma/Cla DNA repeat in pathogenic Neisseriae. Nucleic acids research 24 9060430
1996 Advances in SMA research: review of gene deletions. Neuromuscular disorders : NMD 24 9027847
2020 Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 23 33357600
2017 SMN1 functions as a novel inhibitor for TRAF6-mediated NF-κB signaling. Biochimica et biophysica acta. Molecular cell research 23 28214532
2012 Targeting RNA-splicing for SMA treatment. Molecules and cells 23 22382684
2022 Mouse models of SMA show divergent patterns of neuronal vulnerability and resilience. Skeletal muscle 22 36089582
2012 Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7. BMC medical genetics 22 22994313
2023 Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy. Cell death & disease 21 36849544
2021 Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain & development 21 33892995
2021 Biological insights from SMA-extracted proteins. Biochemical Society transactions 20 34110372
2022 California's experience with SMA newborn screening: A successful path to early intervention. Journal of neuromuscular diseases 19 36278357
2021 Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model. Molecular therapy : the journal of the American Society of Gene Therapy 19 34808387
2020 Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neurons. JCI insight 19 32516136
2018 Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes. PloS one 19 30304024
2017 Phosphatase and tensin homologue: a therapeutic target for SMA. Signal transduction and targeted therapy 19 29263925
2015 Role of Shh and TGF in cyclosporine-enhanced expression of collagen and α-SMA by gingival fibroblast. Journal of clinical periodontology 19 25385493
2014 Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). Journal of cellular and molecular medicine 19 24400925
2021 Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review. International journal of molecular sciences 17 34445667
2021 Benchmarks of SMA-Copolymer Derivatives and Nanodisc Integrity. Langmuir : the ACS journal of surfaces and colloids 16 33645999
2020 Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA). Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 16 33357595
2014 SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis. Journal of the neurological sciences 16 24630593
2023 A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients. Scientific reports 15 36828874
2022 The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA). Cellular and molecular life sciences : CMLS 15 36006469
2013 A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. Molecular genetics & genomic medicine 15 24498607
2021 Targeting the RNA-Binding Protein HuR as Potential Thera-Peutic Approach for Neurological Disorders: Focus on Amyo-Trophic Lateral Sclerosis (ALS), Spinal Muscle Atrophy (SMA) and Multiple Sclerosis. International journal of molecular sciences 14 34638733
2017 Spinal muscular atrophy carriers with two SMN1 copies. Brain & development 14 28676237
2014 Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. Genetic testing and molecular biomarkers 14 25014214
2002 SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist. Neurology 14 12427909
2023 Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation. Acta neuropathologica communications 13 36997967
2020 Widespread tissue hypoxia dysregulates cell and metabolic pathways in SMA. Annals of clinical and translational neurology 13 32790171
2019 Therapeutic advances in SMA. Current opinion in neurology 13 31425176
2008 Mast cells, TGF-beta1 and alpha-SMA expression in IgA nephropathy. Disease markers 13 18334740

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